Varaico: Literature-Extracted Genetic Variants

SOX7

62 papers

RefSeq Summary

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded p...

Pfam Domains

HMG_boxaa 45–113UCSCHMG (high mobility group) box

Sox17_18_midaa 186–236UCSCSox 17/18 central domain

Gene Aliases

HGNC Name

SRY-box transcription factor 7

HGNC Previous Names

SRY (sex determining region Y)-box 7; SRY-box 7

Papers

RefSeq ID

Protein change

DNA change

1–12 of 69 variants

4 papers

NM_031439.4

p.T169S

c.505A>T

4 papers

NM_031439.4

p.T169S

c.506C>G

2 papers

NM_031439.4

p.L14V

c.40C>G

2 papers

NM_031439.4

p.P35R

c.104C>G

2 papers

NM_031439.4

p.R102C

c.304C>T

2 papers

NM_031439.4

p.Q104*

c.310C>T

2 papers

NM_031439.4

p.P172R

c.515C>G

2 papers

NM_031439.4

p.T338I

c.1013C>T

2 papers

NM_031439.4

p.A379V

c.1136C>T

1 paper

NM_031439.4

p.L14L

c.42C>T

1 paper

NM_031439.4

p.E15Q

c.43G>C

1 paper

NM_031439.4

p.E15K

c.43G>A